The majority of variants in RFX7lead to a reduction in the amount of protein produced, suggesting that the clinical features in individuals with RFX7variants may be due to insufficient RFX7 protein levels. RFX7 is found in the brain in excitatory and inhibitory neurons, which raises the possibility that deficiency of RFX7 may disrupt the balance of brain activation (called excitation-inhibition balance).
RFX7